ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.747+1G>A

dbSNP: rs886043392
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000301700 SCV000339873 pathogenic not provided 2016-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001378409 SCV001575970 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2022-04-16 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 286436). This variant has not been reported in the literature in individuals affected with SGCA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 6 of the SGCA gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SGCA are known to be pathogenic (PMID: 9192266).
Genome-Nilou Lab RCV001378409 SCV003931696 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV001378409 SCV004203167 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-08-08 criteria provided, single submitter clinical testing

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